患有菲兰-麦克德米德综合征的儿童的步行异常
Yitzchak Frank1,2, Tess Levy1, Reymundo Lozano1,3,4
1Department of Psychiatry, Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Journal of child neurology
|October 18, 2023
概括
费兰-麦克德米德综合征患者的步态异常比自闭症患者或典型发育患者更多. 这些差异与智力障碍的严重程度有关,而不是综合征本身.
科学领域:
- 遗传学和神经学 遗传学和神经学
- 发育儿科 发育儿科
背景情况:
- 费兰-麦克德米德综合征 (PMS) 是一种与SHANK3基因脱节不充分相关的遗传疾病.
- 它的特点是自闭症谱系障碍,智力障碍和语言问题.
- 走路异常,以前报告不足,现在在55-94%的PMS病例中被认可.
研究的目的:
- 比较PMS的步态异常,异常自闭症谱系障碍 (ASD) 和典型的发展对照.
- 研究步行异常,自闭症和智力功能之间的关系.
主要方法:
- 一组67名参与者 (年龄3-18岁) 被分为PMS (n=46),特异性ASD (n=11) 和对照 (n=10) 组.
- 用视频记录和26个特征的"步行临床观察量表"来评估步行.
主要成果:
- 与异形性ASD和对照组相比,PMS组的步态异常患病率显著更高.
- 在步行异常数量与智商/发育系数 (IQ/DQ) 之间发现了显著的相关性.
- 在控制IQ/DQ后,行走异常的群体差异不再显著,突出了IQ/DQ作为主要因素.
结论:
- 在PMS中走路异常与智力障碍的程度密切相关.
- 智力障碍的严重程度在PMS中更高,似乎是观察到的步态差异背后的驱动因素.
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